MCID: DYS098
MIFTS: 33

Dystonia-11, Myoclonic malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Dystonia-11, Myoclonic

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Dystonia-11, Myoclonic, Aliases & Descriptions:

Name: Dystonia-11, Myoclonic 45
Myoclonic Dystonia 45 19 41 21 43 60
Hereditary Essential Myoclonus 19 41 21
Myoclonus-Dystonia Syndrome 41 20 21
Dystonia, Myoclonic 45 10 22
Myoclonus-Dystonia 19 41 21
 
Alcohol-Responsive Dystonia 41 21
Dystonia 11 19 41
Dyt11 41 21
Myoclonus, Hereditary Essential 41
Dystonia, Alcohol Responsive 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 159900

Summaries for Dystonia-11, Myoclonic

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Genetics Home Reference:21 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

MalaCards based summary: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to obsessive-compulsive disorder and dystonia 15, myoclonic, and has symptoms including muscular hypotonia, autosomal dominant inheritance and torticollis. An important gene associated with Dystonia-11, Myoclonic is DRD2 (dopamine receptor D2). Related mouse phenotypes are cardiovascular system and muscle.

OMIM:45 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal... (159900) more...

GeneReviews summary for myo-dystonia

Related Diseases for Dystonia-11, Myoclonic

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Diseases in the Dystonia-11, Myoclonic family:

Dystonia 15, Myoclonic

Diseases related to Dystonia-11, Myoclonic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1obsessive-compulsive disorder30.1DRD2, SGCE
2dystonia 15, myoclonic10.3
3alcohol dependence10.2
4tremor10.2
5dystonia10.1
6torsion dystonia10.1
7dystonia 610.1
8myoclonus10.1
9focal dystonia10.1DRD2
10silver-russell syndrome10.1
11alzheimer disease, type 310.1
12spinocerebellar ataxia10.1
1318p deletion syndrome10.1
14ataxia10.1
15gilles de la tourette syndrome10.0DRD2
16movement disease9.9DRD2, SGCE

Graphical network of diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Symptoms for Dystonia-11, Myoclonic

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Symptoms by clinical synopsis from OMIM:

159900

Clinical features from OMIM:

159900

HPO human phenotypes related to Dystonia-11, Myoclonic:

(show all 12)
id Description Frequency HPO Source Accession
1 muscular hypotonia rare (5%) HP:0001252
2 autosomal dominant inheritance HP:0000006
3 torticollis HP:0000473
4 depression HP:0000716
5 obsessive-compulsive behavior HP:0000722
6 anxiety HP:0000739
7 agoraphobia HP:0000756
8 myoclonus HP:0001336
9 tremor HP:0001337
10 writer's cramp HP:0002356
11 juvenile onset HP:0003621
12 incomplete penetrance HP:0003829

Drugs & Therapeutics for Dystonia-11, Myoclonic

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Drug clinical trials:

Search ClinicalTrials for Dystonia-11, Myoclonic

Search NIH Clinical Center for Dystonia-11, Myoclonic

Genetic Tests for Dystonia-11, Myoclonic

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Genetic tests related to Dystonia-11, Myoclonic:

id Genetic test Affiliating Genes
1 Myoclonus-Dystonia20 SGCE
2 Myoclonic Dystonia22

Anatomical Context for Dystonia-11, Myoclonic

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Animal Models for Dystonia-11, Myoclonic or affiliated genes

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MGI Mouse Phenotypes related to Dystonia-11, Myoclonic:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1DRD2, SGCE
2MP:00053698.8DRD2, SGCE

Publications for Dystonia-11, Myoclonic

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Variations for Dystonia-11, Myoclonic

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UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743

Clinvar genetic disease variations for Dystonia-11, Myoclonic:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1DRD2NM_000795.3(DRD2): c.460G> A (p.Val154Ile)single nucleotide variantPathogenicrs104894220GRCh37Chr 11, 113287657: 113287657
2SGCENM_003919.2(SGCE): c.289C> T (p.Arg97Ter)single nucleotide variantPathogenicrs121908489GRCh37Chr 7, 94257615: 94257615
3SGCENM_003919.2(SGCE): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908490GRCh37Chr 7, 94257600: 94257600
4SGCESGCE, 1-BP DEL, 565AdeletionPathogenic
5SGCESGCE, 97-BP DELdeletionPathogenic
6SGCESGCE, 5-BP DEL, NT835deletionPathogenic
7SGCENM_003919.2(SGCE): c.587T> G (p.Leu196Arg)single nucleotide variantPathogenicrs121908491GRCh37Chr 7, 94248145: 94248145
8SGCESGCE, 1-BP INS, 885TinsertionPathogenic
9SGCESGCE, 1-BP DEL, 974CdeletionPathogenic
10SGCENM_003919.2(SGCE): c.1114C> T (p.Arg372Ter)single nucleotide variantPathogenicrs121908492GRCh37Chr 7, 94228226: 94228226
11SGCESGCE, EX5 DELdeletionPathogenic
12SGCESGCE, EX6 DELdeletionPathogenic
13SGCESGCE, 2-BP DEL, 619AGdeletionPathogenic

Expression for genes affiliated with Dystonia-11, Myoclonic

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Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

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Compounds for genes affiliated with Dystonia-11, Myoclonic

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GO Terms for genes affiliated with Dystonia-11, Myoclonic

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Cellular components related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:00058879.1DRD2, SGCE

Products for genes affiliated with Dystonia-11, Myoclonic

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Sources for Dystonia-11, Myoclonic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
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45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet